Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency.
about
C6ORF66 is an assembly factor of mitochondrial complex IMutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseUpregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient FibroblastsScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundNovel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders.The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition.Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyMutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQMitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipPF-4708671 activates AMPK independently of p70S6K1 inhibition.Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chainTwo transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsOxidative stress elicited by modifying the ceramide acyl chain length reduces the rate of clathrin-mediated endocytosis.The effects of antidepressants on mitochondrial function in a model cell system and isolated mitochondria.The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study.The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.IL-1β hampers glucose-stimulated insulin secretion in Cohen diabetic rat islets through mitochondrial cytochrome c oxidase inhibition by nitric oxide.Dietary copper supplementation restores β-cell function of Cohen diabetic rats: a link between mitochondrial function and glucose-stimulated insulin secretion.Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease.Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
P2860
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P2860
Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@en
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@nl
type
label
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@en
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@nl
prefLabel
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@en
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@nl
P2093
P356
P1476
Evaluation of enzymatic assays ...... ry chain complex I deficiency.
@en
P2093
Chaya Miller
Corinne Belaiche
Maskit Bar-Meir
Orly Elpeleg
P356
10.1016/J.AB.2004.08.015
P407
P50
P577
2004-12-01T00:00:00Z